AMPD1, adenosine monophosphate deaminase 1, 270

N. diseases: 106; N. variants: 8
Disease: Ventilatory Threshold ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4086945
Disease: Ventilatory Threshold
Ventilatory Threshold 		0.010 GeneticVariation phenotype BEFREE The purpose of this study was to assess if there exists an association between C34T muscle adenosine monophosphate deaminase ( AMPD1) genotypes (i.e., normal homyzygotes [CC] vs. heterozygotes [ CT]) and directly measured indices of exercise capacity (peak oxygen uptake [VO(2peak)], ventilatory threshold [VT], gross mechanical efficiency [GE], etc.) in 44 Caucasian McArdle patients (23 males, 21 females). 17687759 2008